Variants
CDH23 variants
The 3 CDH23 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| D127G | c.380A>G | Exon 6 | 71,511,163 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P240L | c.719C>T | Exon 8 | 71,570,884 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2029W | c.6085C>T | Exon 47 | 71,791,167 | Pathogenic | 3 stars out of 4 reviewed by expert panel |